Monozygotic Twins With Trisomy 21 and Partial Agenesis of the Corpus Callosum

被引：5

作者：

Jacob, Francois D. ^{[1
,2
]}

Dobson, Lori J. ^{[2
,3
]}

Estroff, Judy A. ^{[2
,3
,4
]}

Khwaja, Omar S. ^{[1
,2
]}

机构：

[1] Childrens Hosp, Dept Neurol, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Boston, MA USA

[3] Childrens Hosp, Adv Fetal Care Ctr, Boston, MA 02115 USA

[4] Childrens Hosp, Dept Radiol, Boston, MA 02115 USA

来源：

PEDIATRIC NEUROLOGY | 2013年 / 48卷 / 04期

关键词：

DOWN-SYNDROME; CRITICAL REGION; GENE; PHENOTYPES; SIM2;

D O I：

10.1016/j.pediatrneurol.2012.12.014

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Trisomy 21 is the most common viable trisomy. Although it is invariably associated with mild to severe developmental delay and intellectual disability, no gross central nervous system malformation has been consistently identified in individuals with trisomy 21. We present the case of a monozygotic twin pregnancy in which both fetuses were identified as having trisomy 21 and partial agenesis of the corpus callosum. We discuss this rare association in the context of an emerging understanding of the neurobiology of trisomy 21. (C) 2013 Elsevier Inc. All rights reserved.

引用

页码：314 / 316

页数：3

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